CEP104 - centrosomal protein 104 Gene

Also Known as GlyBP; MRT77; ROC22; JBTS25; CFAP256; KIAA0562

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9731

About CEP104

Cytogenetic location: 1p36.32 Genomic coordinates (GRCh38): 1:3,812,086-3,857,211 (from NCBI)

This gene has 26 transcripts (splice variants), 201 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 6.6), kidney (RPKM 6.5) and 25 other tissues.

Summary

This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016]

CEP104 Products (1)

mRNA Protein Name
NM_014704.4 NP_055519.1 centrosomal protein of 104 kDa
Protein Preferred Names Protein Names

centrosomal protein of 104 kDa

  • centrosomal protein 104kDa

CEP104 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CEP104 O60308 SF1 Homo sapiens Q15637
Y2H Fragment Pooling
26420826
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Joubert Syndrome 25

  • JBTS25

  • Joubert Syndrome, Type 25
Intellectual Developmental Disorder, Autosomal Recessive 77

  • MRT77

  • Autosomal Recessive Intellectual Developmental Disorder 77
Aceruloplasminemia

  • Cerebellar Ataxia

  • Hypoceruloplasminemia

  • Hemosiderosis, Systemic, Due To Aceruloplasminemia

  • Familial Apoceruloplasmin Deficiency

  • Hereditary Ceruloplasmin Deficiency

  • Deficiency Of Ferroxidase

  • Hypoceruloplasminemia, Hereditary

  • Ceruloplasmin Deficiency

  • Systemic Hemosiderosis Due To Aceruloplasminemia

  • ACERULOP
Dystonia

  • Dystonic Disease

  • Dystonic Disorder

  • Dystonia Disorders

  • Neuroleptic Dyskinesia
Joubert Syndrome 1

  • Joubert Syndrome

  • Jbts

  • Cerebellooculorenal Syndrome 1

  • JBTS1

  • Joubert-Boltshauser Syndrome

  • Cerebelloparenchymal Disorder Iv

  • Cpd4

  • Cors1

  • Joubert Syndrome And Related Disorders

  • Jsrd

  • Familial Aplasia Of The Vermis

  • Joubert Syndrome Related Disorders

  • Js

  • Cerebellar Vermis Agenesis

  • Cerebelloparenchymal Disorder 4

  • Agenesis Of Cerebellar Vermis

  • Cerebello-Oculo-Renal Syndrome

  • Cors

  • Joubert-Bolthauser Syndrome

  • Cpd Iv

  • Classic Joubert Syndrome

  • Joubert Syndrome Type A

  • Pure Joubert Syndrome

  • Cerebello-Oculo-Renal Syndrome 1

  • Joubert Syndrome-1

  • Joubert Syndrome, Type 1

  • Joubert'S Syndrome
Apraxia

  • Apraxias

  • Dyspraxia
Oculomotor Apraxia
Cerebellar Malformation
Joubert Syndrome 26

  • JBTS26
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia

  • X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type

  • X-Linked Dominant Chondrodysplasia-Hydrocephaly-Microphthalmia Syndrome

  • CDP-PBHM

  • Chondrodysplasia, With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Joubert Syndrome 21

  • JBTS21

  • Joubert Syndrome, Type 21
Joubert Syndrome 10

  • JBTS10

  • Joubert Syndrome, Type 10
Bardet-Biedl Syndrome

  • Bbs

  • Biedl-Bardet Syndrome
Cornelia De Lange Syndrome 1

  • De Lange Syndrome

  • CDLS1

  • Cdl

  • Cdls

  • Typus Degenerativus Amstelodamensis

  • Brachmann-De Lange Syndrome

  • Bdls

  • Amstelodamensis Typus Degenerativus

  • Cornelia De Lange Syndrome, Type 1
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly

  • Asphyxiating Thoracic Dystrophy 1

  • Jeune Syndrome

  • SRTD1

  • Atd1

  • Asphyxiating Thoracic Dystrophy Of The Newborn

  • Jatd

  • Jeune Asphyxiating Thoracic Dystrophy

  • Thoracic-Pelvic-Phalangeal Dystrophy

  • Atd

  • Asphyxiating Thoracic Dystrophy

  • Chondroectodermal Dysplasia-Like Syndrome

  • Infantile Thoracic Dystrophy

  • Jeune'S Syndrome

  • Thoracic Pelvic Phalangeal Dystrophy

  • Jeune Thoracic Dystrophy
Chromosome 1p36 Deletion Syndrome

  • 1p36 Deletion Syndrome

  • Deletion 1p36

  • Monosomy 1p36

  • Subtelomeric 1p36 Deletion

  • Monosomy 1p36 Syndrome

  • Distal Monosomy 1p36

  • Del(1)(P36)

  • Deletion 1pter

  • Monosomy 1pter
Senior-Loken Syndrome 1

  • Senior-Loken Syndrome

  • Renal Dysplasia And Retinal Aplasia

  • Renal-Retinal Syndrome

  • Loken-Senior Syndrome

  • Juvenile Nephronophthisis With Leber Amaurosis

  • SLSN1

  • Senior-Loken Syndrome-1

  • Loken Senior Syndrome

  • Senior Loken Syndrome

  • Renal Dysplasia Retinal Aplasia

  • Nephronophthisis With Retinal Dystrophy

  • Renal Dysplasia-Retinal Aplasia Syndrome

  • Slsn
Asphyxiating Thoracic Dystrophy

  • Jeune Thoracic Dystrophy

  • Jeune Syndrome

  • Asphyxiating Thoracic Dysplasia

  • Short-Rib Thoracic Dysplasia With Or Without Polydactyly

  • Thoracic Pelvic Phalangeal Dystrophy

  • Asphyxiating Thoracic Chondrodystrophy

  • Atd

  • Chondroectodermal Dysplasia-Like Syndrome

  • Infantile Thoracic Dystrophy

  • Jeune Thoracic Dysplasia

  • Thoracic Asphyxiant Dystrophy

  • Thoracic-Pelvic-Phalangeal Dystrophy

  • Short-Rib Thoracic Dysplasia Without Polydactyly

  • Asphyxiating Thoracic Dystrophy Of The Newborn

  • Asphyxiating Thorax Dystrophy
Patent Foramen Ovale

  • Atrial Septal Defect Within Oval Fossa

  • Foramen Ovale Patent

  • Ostium Secundum Atrial Septal Defect

  • Atrial Septal Defect, Ostium Secundum Type

  • Foramen Ovale, Patent

  • Defect, Patent Or Persistent, Ostium Secundum

  • Ostium Secundum Type Atrial Septal Defect

  • Persistent Ostium Secundum

  • Asd Ostium Secundum Type

  • Ostium Secundum Asd

  • Osasd

  • Asd, Ostium Secundum Type

  • Pfo - [Patent Foramen Ovale]

  • Open Foramen Ovale

  • Open Oval Foramen

  • Persistent Foramen Ovale

  • Secundum Atrial Septal Defect
Fundus Dystrophy

  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS02496 CEP104 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris CEP104 VGNC VGNC:39115
Macaca mulatta CEP104 VGNC VGNC:71093
Bos taurus CEP104 VGNC VGNC:27189
Rattus norvegicus CEP104 RGD RGD:708505
Mus musculus CEP104 MGD MGI:2687282
Felis catus CEP104 VGNC VGNC:60764
Others CEP104 NCBI